Linked Data
dbSNP Id:
rs1259294382
gnomAD v3:
6-31355213-G-C
gnomAD v4:
6-31355213-G-C
MyVariant Identifiers:
chr6:g.31322990G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31355213G>C , CM000668.2:g.31355213G>C | GRCh38 |
| NC_000006.11:g.31322990G>C , CM000668.1:g.31322990G>C | GRCh37 |
| NC_000006.10:g.31430969G>C | NCBI36 |
| NG_023187.1:g.7000C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.2953C>G | ||
| ENST00000481849.6:n.2472C>G | ||
| ENST00000497377.6:n.2379C>G | ||
| ENST00000640094.2:c.895+104C>G | ENSP00000491275.2:n.895+104C>G | |
| ENST00000696558.1:c.975C>G | ENSP00000512716.1:n.975C>G | |
| ENST00000696559.1:c.906C>G | ENSP00000512717.1:p.Ser302= | |
| ENST00000696560.1:c.906C>G | ENSP00000512718.1:p.Ser302= | |
| ENST00000696561.1:c.906C>G | ENSP00000512719.1:p.Ser302= | |
| ENST00000696562.1:c.906C>G | ENSP00000512720.1:p.Ser302= | |
| ENST00000412585.7:c.906C>G MANE Select | ENSP00000399168.2:p.Ser302= | |
| ENST00000640094.1:c.88+104C>G | ENSP00000491275.1:n.88+104C>G | |
| ENST00000412585.6:c.906C>G | ENSP00000399168.2:p.Ser302= | |
| ENST00000463574.1:n.497C>G | ||
| NM_005514.6:c.906C>G | NP_005505.2:p.Ser302= | |
| XM_011514556.1:c.939C>G | XP_011512858.1:p.Ser313= | |
| XM_011514557.1:c.895+104C>G | XP_011512859.1:n.895+104C>G | |
| XR_926175.1:n.1345C>G | ||
| NM_005514.7:c.906C>G | NP_005505.2:p.Ser302= | |
| NM_005514.8:c.906C>G MANE Select | NP_005505.2:p.Ser302= |